Skip to main content

Table 5 Segregation of likely pathogenic missense and small in-frame indel mutations of PKD1 with polycystic kidney disease in affected families

From: Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

Amino acid change

Nucleotide change

Family

Number of affected/healthy family members

p.Cys522Arg

c.1564 T > C

338

5/2

p.Gly1999Ser

c.5995G > A

301

3/2

p.Asn2044Asp

c.6130A > G

315

6/4

p.Cys2495Tyr

c.7484G > A

112

3/3

p.Leu2619Arg

c.7856 T > G

357

2/3

p.Glu2771Lys

c.8311G > A

336

2/1

389

6/5

p.Gly3651Ser

c.10951G > A

330

2/3

p.Arg3750Gly

c.11248C > G

419

2/2

p.Glu3660_Ala3661delinsAsp

c.10980_10982delAGC

297

2/4

p.Leu3998_Leu3999insPheLeuLeu

c.11993_11994dup9

161

3/3

p.Lys4147del

c.12439_12441delAAG

454

3/2